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Article

Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.

Seizure - 1 Jul 2022

Salvati Andrea, Biagioni Tommaso, Ferrari Anna Rita, Lopergolo Diego, Brovedani Paola, Bartolini Emanuele

Abstract excerpt

PURPOSE: De novo truncating mutations of AHDC1 gene cause Xia-Gibbs Syndrome (XGS), characterized by developmental delay, hypotonia, speech disturbances, sleep apnea. Seizures have been reported, yet no studies have depicted the epilepsy characteristics and outcome. METHODS: We describe the clinical features of a pair of Caucasian monozygotic female twins affected by severe epilepsy and presenting the same de...

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Identifiers

PMID: 35636160
DOI: 10.1016/j.seizure.2022.05.020

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